ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.675C>T (p.Ala225=)

gnomAD frequency: 0.00006  dbSNP: rs782220140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704320 SCV000527951 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Invitae RCV000898742 SCV001042965 likely benign Pyruvate dehydrogenase E2 deficiency 2023-06-21 criteria provided, single submitter clinical testing

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